ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825189154
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3076169
ClinVar RCV Id:
RCV004018486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala49Asp
CA366744974
NM_000535.7:c.146C>A